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Cluster 617

5 diseases · 7 shared-gene connections

5 Diseases

3 Unique genes

0.357 Avg. similarity score

Dend syndrome Most-connected disease (4 links)

Significant edges only (q < 0.05) Spacing Colour by

Disease Pinned (dragged)

Node size = connections within this cluster · edge thickness = similarity strength · hover an edge for its details · click a node to select it and show its pairs below (double-click or Ctrl/⌘-click opens the disease page) · drag a node to pin it in place · scroll/pinch to zoom.

Dend syndrome Diabetes, permanent neonatal, with or without neurologic features Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency Hyperinsulinemic hypoglycemia, familial, 2 Deafness, autosomal recessive 94

Member diseases (most connected first ‐ the cluster's core)

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Dend syndrome	4	4	3
Diabetes, permanent neonatal, with or without neurologic features	3	3	1
Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency	3	3	1
Hyperinsulinemic hypoglycemia, familial, 2	3	3	1
Deafness, autosomal recessive 94	1	1	1

Top shared genes (genes linked to 2+ member diseases)

Gene ⇵	Member diseases ⇵	Linked diseases
KCNJ11	4 / 5	Dend syndrome, Diabetes, permanent neonatal, with or without neurologic features, Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency, Hyperinsulinemic hypoglycemia, familial, 2
NARS2	2 / 5	Deafness, autosomal recessive 94, Dend syndrome

What do these columns mean?

Connections in cluster: How many other members this disease has a shared-gene link to (the node size in the network above). The most-connected diseases are the cluster's core.
Significant partners: How many of those links are statistically significant (FDR q < 0.05).
Curated genes: Distinct curated genes linked to that disease in GeDiPNet.
Member diseases (Top shared genes): How many of this cluster's diseases are linked to the gene, out of the cluster's total. Genes shared by many members are the most direct explanation of why they group together.
Overlap genes (x / y): x = genes shared between this cluster and the pathway/GO term; y = that pathway/GO term's total gene count. A higher x relative to y (and to the cluster's own size) means a tighter biological match.
Cluster gene count: Total distinct genes across every disease in this cluster -- the "n" used in the significance test below.
Fold enrichment: Observed overlap divided by the overlap expected by chance, given the cluster's gene count, the pathway/term's size and the gene universe tested. 5× means five times more shared genes than random. Tells strong hits apart when q-values are all vanishingly small.
P-value / FDR q-value: Is this pathway/GO term's overlap with the cluster more than chance? Upper-tail hypergeometric test, Benjamini-Hochberg corrected across every tested pathway/term (prefer the q-value -- it accounts for testing many at once).
Shared genes (Pairs within this cluster): Number of curated genes the two diseases in that row have in common.
Similarity score (Pairs within this cluster): Jaccard-based gene overlap between the two specific diseases in that row -- same metric as the main Shared-Gene Disease Pairs page.

Enriched Pathways (why this cluster is grouped, biologically)

Pathway ⇵	Source ⇵	Overlap genes ⇵	Fold enrichment ⇵	P-value ⇵	FDR q-value ⇵
Defective ABCC8 can cause hypoglycemias and hyperglycemias ABCC8, KCNJ11	Reactome	2 / 2	4,003×	4.16e-8	2.60e-6 ✓ sig.
ATP sensitive Potassium channels ABCC8, KCNJ11	Reactome	2 / 4	2,002×	2.50e-7	1.25e-5 ✓ sig.
Regulation of insulin secretion ABCC8, KCNJ11	Reactome	2 / 16	500×	4.99e-6	1.64e-4 ✓ sig.
Type II diabetes mellitus ABCC8, KCNJ11	KEGG	2 / 47	170×	4.49e-5	1.00e-3 ✓ sig.
Insulin secretion ABCC8, KCNJ11	KEGG	2 / 86	93.1×	1.51e-4	2.64e-3 ✓ sig.
Defective ABCC9 causes dilated cardiomyopathy 10, familial atrial fibrillation 12 and hypertrichotic osteochondrodysplasia KCNJ11	Reactome	1 / 2	2,002×	5.00e-4	6.67e-3 ✓ sig.
ABC transporters ABCC8	KEGG	1 / 45	89.0×	1.12e-2	6.10e-2
Ion homeostasis KCNJ11	Reactome	1 / 54	74.1×	1.34e-2	6.79e-2
GnRH secretion KCNJ11	KEGG	1 / 65	61.6×	1.62e-2	7.58e-2
Aminoacyl-tRNA biosynthesis NARS2	KEGG	1 / 66	60.7×	1.64e-2	7.63e-2
ABC-family proteins mediated transport KCNJ11	Reactome	1 / 81	49.4×	2.01e-2	8.59e-2

Enriched GO Terms (Biological Process, a second line of biological evidence)

GO term ⇵	GO ID ⇵	Overlap genes ⇵	Fold enrichment ⇵	P-value ⇵	FDR q-value ⇵
inorganic cation transmembrane transport ABCC8, KCNJ11	GO:0098662	2 / 23	542×	4.34e-6	2.83e-4 ✓ sig.
negative regulation of insulin secretion ABCC8, KCNJ11	GO:0046676	2 / 35	356×	1.02e-5	5.52e-4 ✓ sig.
potassium ion import across plasma membrane ABCC8, KCNJ11	GO:1990573	2 / 46	271×	1.78e-5	8.46e-4 ✓ sig.
action potential ABCC8, KCNJ11	GO:0001508	2 / 53	235×	2.36e-5	1.05e-3 ✓ sig.
cellular response to nutrient levels ABCC8, KCNJ11	GO:0031669	2 / 83	150×	5.83e-5	2.07e-3 ✓ sig.
negative regulation of neuroblast migration ABCC8	GO:0061855	1 / 1	6,229×	1.61e-4	4.34e-3 ✓ sig.
positive regulation of uterine smooth muscle relaxation ABCC8	GO:1900721	1 / 1	6,229×	1.61e-4	4.34e-3 ✓ sig.
potassium ion transmembrane transport ABCC8, KCNJ11	GO:0071805	2 / 150	83.1×	1.91e-4	4.93e-3 ✓ sig.
potassium ion transport ABCC8, KCNJ11	GO:0006813	2 / 152	82.0×	1.96e-4	5.02e-3 ✓ sig.
asparaginyl-tRNA aminoacylation NARS2	GO:0006421	1 / 2	3,115×	3.21e-4	7.04e-3 ✓ sig.
glutamate secretion, neurotransmission ABCC8	GO:0061535	1 / 3	2,076×	4.82e-4	9.24e-3 ✓ sig.
negative regulation of blood-brain barrier permeability ABCC8	GO:1905604	1 / 3	2,076×	4.82e-4	9.24e-3 ✓ sig.
response to resveratrol KCNJ11	GO:1904638	1 / 3	2,076×	4.82e-4	9.24e-3 ✓ sig.
response to xenobiotic stimulus ABCC8, KCNJ11	GO:0009410	2 / 248	50.2×	5.22e-4	9.80e-3 ✓ sig.
positive regulation of tight junction disassembly ABCC8	GO:1905075	1 / 5	1,246×	8.03e-4	1.28e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Diabetes, permanent neonatal, with or without neurologic features	Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Diabetes, permanent neonatal, with or without neurologic features	Hyperinsulinemic hypoglycemia, familial, 2	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency	Hyperinsulinemic hypoglycemia, familial, 2	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Deafness, autosomal recessive 94	Dend syndrome	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Dend syndrome	Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Dend syndrome	Hyperinsulinemic hypoglycemia, familial, 2	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Dend syndrome	Diabetes, permanent neonatal, with or without neurologic features	0.250	1	1.94e-4	4.41e-4 ✓ sig.

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